Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study on Late Onset Ataxia Related to a GAA Expansion in the FGF14 Gene
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- description of genotype
研究概览
简要总结
Cerebellar ataxias of late onset are of undetermined etiology in many cases. A new cause of late-onset cerebellar ataxia was discovered in January 2023 corresponding to an expansion of GAA triplets in intron 1 of the FGF14 gene.
However, this cerebellar ataxia is still poorly known and requires further investigations to know its clinical phenotype and its evolution in order to propose a diagnosis and a genetic counseling adapted to patients and families. The objective of our study will be to describe the clinical and genotypic phenotype of patients with GAA-FGF14
详细描述
The objective of our study will be to describe the clinical and genotypic phenotype of patients with GAA-FGF14. We wish to describe the precise clinical phenotype by detailing each patient's clinical examination, medical history, treatment history, frequency and symptomatology of episodes, MRI radiological data, otho-rihno-laryngeal examination data etc . We would also like to describe the precise genotype for each patient, specifying the number of GAA expansions and its characteristics.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with a diagnosis of cerebellar ataxia of type GAA-FGF14
排除标准
- •patients not wishing to be followed
结局指标
主要结局
description of genotype
时间窗: through study completion, an average of 3 years
genotypic characterization of the GAA expansion
description of clinical symptoms
时间窗: through study completion, an average of 3 years
description of clinical symptoms such as gait impairment, diplopia, vertigo, dizziness etc.
次要结局
未报告次要终点
研究者
RENAUD Mathilde
MD,PhD
Central Hospital, Nancy, France